October 2017 June 2017 Information Days Hobart & Brisbane Fragile X in the News Research Matters GPs and Diagnosis FX Awareness Month! and ...
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October 2017
June 2017
Passion for Sport
Information Days
Workshops
Hobart & Brisbane
FX Fathers Study
Fragile X in the News
Clinical
Research Trial
Matters
Healthcare and ID
GPs and Diagnosis
FX
FXAwareness
AwarenessMonth!
Month!
and
and more…...
more…...
The Kerry Family
Photo credit: Daniel Linnet
Dear Members and Friends,
We have had a very interesting couple of months. July was one of our big events for the year with FX Awareness
month. The illumination of landmark buildings for FX Awareness day on 22nd was a national and bigger event this year,
and the release of the results of the MCRI Fragile X carrier study generated outstanding media coverage of Fragile X.
Some sad news. After a successful three years running the medical community awareness program, Katrina Weir
has moved on to other professional challenges. I offer Katrina our deepest appreciation and acknowledge her
achievements in increasing understanding of Fragile X-associated conditions in the medical community:
Strengthening and extending our network of experts and education providers in the areas of health, genetics and
intellectual disability. These strong relationships have led to opportunities to raise awareness of FX to many
thousands of medical professionals right across the country.
Developing materials to increase understanding of Fragile X across a wide audience - including presentations,
brochures, magazine articles, online stories, flyers, and videos.
Masterminding the complex presentation and networking schedule for Profs Randi and Paul Hagerman in 2015,
across Melbourne, Perth and Sydney. Paul and Randi had never been so efficiently & effectively deployed to medical
professionals and families in Australia. (and they very much enjoyed their trip!!)
The Association’s Annual General Meeting will be held on Sunday 26th November. There are two Board vacancies to be
filled. Many thanks to Director Cathy Love who will step down prior to the AGM after 4 years on the Board. I encourage
anyone interested in knowing more about what our Board does to contact Wendy Bruce on 1300 394 636.
The FXAA Office has a new home. After many years in and around Manly, in Sydney, we’ve relocated to Brookvale,
which is nearby and very accessible by car & public transport. Many thanks to Bunnings for donating paint and
furniture to spruce up the new office and providing volunteers to help paint! Do drop in if you’re in the neighbourhood!
Many thanks to the members who have come forward with fundraising ideas, and have offered to host or take part in
events. Cynthia Roberts raised over $8000 in the Sydney City2Surf in August – her best ever fundraising result!
Mike & Helen Tozer and their team ran excellent times and raised more than $4,000. Mike attracted lots of
media attention by wearing the blue suit, competing in both the City2Surf and the Sydney Marathon!
Special thanks to Shane Lyons and Jo Ryan for the very successful fundraiser High Tea in Launceston, which raised
$3500 and was a great afternoon. Amazing effort and the second year for lighting up orange for FX in Launceston. And
thanks to Katherine Brown, in Adelaide, who organised a movie night in August that was successful in raising $2,000.
The Board is focused on our fundraising strategy and the urgency of securing new funding for our continuing
operations. We are looking at options to reduce our costs but do not want to impact on the level of support we offer to
families. We need to raise an additional $100,000 to replace a grant which ends in a few months. The Board is
investigating some potential philanthropic leads but it is an extremely competitive market, so if you can help us help
you, please do. Five donors @ $20,000 or 100 donors @ $1,000. Sounds simple!
Finally, it is a privilege and a pleasure to host the highly regarded experts Dr Marcia Braden and Dr Jonathan Cohen,
who will lead FX information days for us in Brisbane on 1 November and in Hobart on 3 November. Dr Braden and
Dr Cohen will also be available for some clinical assessments. For details about clinic places, please contact Wendy.
Graham Hook, President, FXAA
Page 2
BRISBANE
Wednesday 1 November 2017
HOBART
Friday 3 November 2017
Don’t miss this opportunity to learn
about the latest in Fragile X.
It’s a privilege to have Dr Marcia Braden return to Australia to join our local expert Dr Jonathan Cohen for a
series of updates on Fragile X.
Dr Marcia Braden is an educational psychologist who specialises in educational strategies and behaviours in
children and adults with Fragile X syndrome.
Dr Jonathan Cohen is the medical director of the Fragile X Alliance Clinic in Melbourne.
Together they will lead a full day program devoted to the latest on Fragile X:
Strategies to support the Fragile X learning style
Daily living strategies and successful supports
BOOK NOW!
Update on Fragile X conditions, and the latest in research
Prof Randi Hagerman says:
BRISBANE “Dr Braden is the most experienced psy-
Wednesday 1 November, 9:30-4:30 chologist in the field of Fragile X that I
Souths Leagues Club, 120 Jane Street, West End know. She has seen patients for over 20
(Free parking) years and her behavioural and academic
Bookings online at trybooking: http://bit.ly/2hXtO2R programs have made a wonderful
difference for the children she treats.”
HOBART
Friday 3 November. 9:30 –4:30
Best Western Hobart, 156 Bathurst Street, Hobart
Ticket prices and more information: www.fragilex.org.au OR call us on 1300 394 636
CLINICS
Dr Braden and Dr Cohen will offer a limited number of clinical assessments in
Brisbane and Hobart. Contact Wendy on 1300 394 636 for details.
Page 3
Fragile X Achievement Awards 2017
Each year the Fragile X Association Achievement Awards celebrate perseverance and personal successes!
The Awards are intended to inspire and encourage the people who are nominated, and their family and
friends. They are also inspiring for everyone in the Fragile X community!
Past winners have been recognised for their personal achievement across a wide range of areas.
Achievement at work or school. Efforts in sport, or in art. In achieving independence, or in building up
skills. In supporting other people in the family or contributing to a community.
To be eligible: The person nominated must be part of the Australian Fragile X community
Closing date: Nominations close Friday 10 November 2017
Winners announced: Annual General Meeting, Sunday 26 November 2017
NOMINATE SOMEONE for an award — send an email to wendy@fragilex.org.au with the following:
The name of the person you nominate
Your full name and contact details
Description of the person's achievements (maximum of 2 paragraphs)
If you have any questions about the Awards, contact Wendy.
Venue to be advised
Page 4
So many people helped to raise awareness of Fragile X in so many ways right across the country throughout
the month of July! From community events, fundraisers, talking to the media, photo opps, a High Tea, tak-
ing photo portraits, designing our graphics and being really active on social media. And lighting landmark
buildings orange in major cities. What a month! Some special mentions:
Shane Lyons and Ben & Jo Ryan, Margaret Tappert, Sue Bride, Kate Stokes, Nyleta & Shelley McRae,
Janine Peate, Lisa Ryan, Graham Hook, Professor Sylvia Metcalfe, Dr Jonathan Cohen, Oliver & Kerry Moore.
Thank you to everyone who was part of Awareness Month 2017!
Melbourne!
Brisbane!
Brisbane!
Shepparton!
Melbourne!
Launceston!
Canberra!
Taree!
Page 5
Fragile X Carrier Screening Study
New research by Murdoch Children’s Research Institute Authors of the study included Professor Sylvia Metcalfe,
has found that carrier screening can be offered to women Group Leader, Genetics Education and Health Research,
with minimal psychosocial harms, as long as the appro- Murdoch Children’s Research Institute and Department of
priate information is provided and pre-screening genetic Paediatrics, University of Melbourne, and
counselling is offered. The findings from this research Dr Jonathan Cohen, Director of Fragile X Alliance Inc and
support the authors’ recommendation that Fragile X Genetic Clinics Australia.
screening be offered to women in the general population
who are planning to start a family. The name of the study is “Informed decision making and psy-
chosocial outcomes in pregnant and non-pregnant women of-
The study provides evidence to counter existing concerns fered population Fragile X carrier screening.”
about offering Fragile X screening in the general
The full paper is available online: http://www.nature.com/gim/
population. It calls for current international guidelines to
journal/vaop/ncurrent/full/gim201767a.html
be updated to include routine offering of Fragile X carrier
screening to women in the general population, regardless
of family history of Fragile X or perceived risk.
The results of the study were covered widely by the national media in newspapers, radio, TV broadcasts and social
media on Monday 31st July 2017. A fantastic end to Fragile X Awareness month!
Page 6
Kerry and Oliver Moore in the Spotlight
to Promote MCRI population Carrier
Screening
Kerry Moore decided to become a spokesperson for a
study into Fragile X carrier screening as a way to give
back to the health professionals that have supported her,
and to the Fragile X community.
When Kerry and her 15 year old son Oliver, who has
Fragile X syndrome, agreed to help Murdoch Children’s
Research Institute (MCRI) promote the study, they could
never have anticipated the overwhelming level of media
interest in the research and the amount of television,
newspaper, online and radio coverage that resulted.
Photo credit: Luis Ascui, Fairfax Media
On the last day of July, Fragile X Awareness Month, Kerry
and Oliver spent most of the day being filmed and
interviewed by journalists from around Australia who were About Kerry’s Family
looking to compile a story about the outcomes of the When Oliver was only six months old, Kerry became
research. concerned that he wasn’t meeting developmental milestones.
At that time, she saw a developmental paediatrician who
Kerry discussed her family’s experience with Fragile X described Oliver as ‘borderline normal’ and inquired as to why
Kerry was so worried about him.
syndrome including her and her husband’s decision to
pursue assisted reproductive technology for subsequent
When Kerry mentioned that she had twin adult cousins with
pregnancies. She also encouraged anyone who is offered
an undiagnosed intellectual disability, and a niece with
screening for Fragile X syndrome to take it as she believes learning and speech problems, the paediatrician understood
having knowledge of being a carrier allows families to her concern and ordered a battery of tests, including testing
make informed family planning choices. for Fragile X syndrome. When the paediatrician suggested
Kerry and her husband go to her office to learn the results,
“Although everyone is different, for me, the choice is clear. Kerry thought the problem was going to be low iron.
I would rather take a simple screening test and be It turned out to be Fragile X syndrome.
informed about choices I have, than not know. I would
thoroughly recommend screening to everyone – it’s so Oliver’s diagnosis prompted a referral to a genetic counsellor
easy to do. What you do with the information is then up to and cascade testing for the entire family. This revealed that
you,” Kerry said. Kerry and two of her sisters are carriers, and confirmed her
cousins and niece as having full mutation Fragile X
Kerry described the experience of being involved in a syndrome.
major media campaign as ‘hugely rewarding’. She was
impressed with the respectfulness and kindness of the Kerry and her husband had two subsequent pregnancies and
journalists and cameramen towards Oliver and his needs. Oliver now has two younger brothers aged 13 and 10. She
became pregnant naturally with her second born and learned
that the baby was unaffected through an agonising wait for
For Oliver, it was an exciting experience and a chance to
the results of a CVS (chorionic villus sampling). For the third
have the day off school, however Kerry said that he found
pregnancy, she decided IVF and PGD (preimplantation
it overwhelming to watch himself on that night’s television
genetic diagnosis - where the embryos are screened for
news. Interestingly, her appearance on mainstream Fragile X syndrome before being implanted), was the best
media has also promoted discussion with people in her option and based on her experience, would absolutely
local community who weren’t aware that Oliver has Fragile recommend that pathway if it is an option for other families.
X syndrome.
Although Kerry and her husband were in shock at the time of
Fragile X Association of Australia and MCRI are extremely the diagnosis, they are now very thankful to know that
grateful to Kerry and Oliver for giving up their time and for Oliver’s difficulties are caused by Fragile X syndrome.
agreeing to participate in what turned out to be the story
of the week. “Because we have a confirmed diagnosis, we have realistic
expectations for Oliver’s development and progress.
Their participation really brought the concept of Without a diagnosis, many families are left wondering.
population carrier screening to life and because the media
coverage was so widespread, has helped raised “The diagnosis also allowed us to plan for our other
awareness of both the condition and the option for carrier pregnancies. This has meant we have been lucky enough to
screening among a much broader section of the give Oliver two brothers who are not affected by Fragile X
Australian population. Page 5
Page 7 syndrome,” Kerry explained.
Photo Gallery
Many thanks to hardware store
Bunnings for their generous donation!
As part of their community support
program, Bunnings at Warringah Mall
in Sydney donated paint and some
furniture to help us kit out our new
office! Very special thanks to Alexis
and Sherie from Bunnings who helped
Wendy give the office a makeover!
Our new FX office address:
Suite 204
20 Dale Street
Before…. Brookvale, Sydney
after!
Ross Mackenzie. First visitor.
Orange FX
scarves for July
Ben & Jo Ryan in the Launceston Examiner.
Photo credit Scott Gelston
Anne!
Page 8
Miriam! Rosie! Jacintha!
Congratulations to Mike Tozer, who ran a full marathon in the fast blue suit on 17th September
Mike was very keen to take out a SECOND Guinness World Record for running in a suit! What an amazing race.
42km around Sydney, finishing up at the steps of the magnificent Opera House. Mike set a cracking pace and at 2
hours and 50 minutes, he beat the current Guinness World Record holder’s time by 8 minutes! But the first suit over
the line on the day was in fact Matt Whittaker, also from Sydney, who set a new record at 2:43.
In the leadup to the race, and afterwards, Mike achieved fabulous media coverage for Fragile X syndrome and the
reason he runs. Mike and Joshua Tozer appeared on Channel 10’s Studio 10, on Friday 15th September, ahead of
the marathon in a 6-minute interview. You can watch the video of the interview on youtube.
Congratulations Mike, on a fantastic running season this year. A magnificent effort raising the profile of
Fragile X syndrome and being a champion fundraiser!
Two suits across the line!
Mike and Matt
On the road
Page 9
Research Matters Australian Clinical Trial of Skin Gel Completed A number of Australian children with Fragile X syndrome participated in Zynerba’s recent clinical trial of a skin gel for the treatment of symptoms of Fragile X syn- drome n people aged 8-17 years old. A total of 20 patients were enrolled in Bris- bane, Sydney and Melbourne. On 28 September, Zynerba issued a media release announcing “positive top line results from an open label exploratory Phase 2 FAB-C (Treatment of Fragile X Syndrome Anxiety and Behavioral Challenges with CBD) clinical trial evaluating ZYN002 cannabidiol (CBD) gel in pediatric and adolescent patients with Fragile X syndrome (FXS). The study successfully met its primary endpoint, achieving a 46% improvement (p
Seeking participants for FXTAS Study
By Dr Danuta Loesch, Latrobe University,
Project name: Genotype-phenotype relationships in
Melbourne
Fragile X families.
(Longitudinal study of clinical, genetic and cellular
function markers of the FMR1 premutation-associated
By relating these markers to genetic
neurological disorders in older male and female carriers.)
changes occurring in the premutation on
the one hand, and to the clinical (neurological, MRI) and
Project principal investigators: Prof Randi Hagerman
neuropsychological changes on the other, we may be able
in the US and Dr Danuta Loesch for the Australian site.
to understand how and why individual carriers differ in
their response to cellular stress. The outcome may thus
Aims and significance of the study
have important implications in prevention of disease, and
For the last 3 decades, we have been conducting studies
the identified biological markers may directly indicate
on various aspects of Fragile X-associated Disorders.
treatment targets.
These studies led to many important publications, clinical
applications in this field, and international recognition.
Our current 2017-2022 study is a continuation of the
investigations described above, because in order to
Because of acknowledged contribution and excellence of
achieve our goals and confirm our hypotheses by means
our research, we have succeeded in obtaining continuing
of appropriate statistics, we require a much bigger sam-
support from the National Institutes of Health, USA (NIH)
ple of participants carrying the premutation, including the
since the year 2002 to conduct Fragile X studies in
males who have been diagnosed with FXTAS, or experi-
collaboration with the team from the University of
ence relevant neurological problems, or are unaffected.
California at Davis led by Prof Randi Hagerman.
In addition, in the current study we apply the longitudinal
One of the most important findings from these studies
model, in order to monitor the progression of the disease,
was that some males (and a much smaller proportion of
and identify the factors determining its fast or slow pro-
females) carrying small expansions of CGG repeat in the
gression. The results of this study, apart from their prog-
FMR1 gene (called premutation) develop a neurological
nostic value, will contribute important information to our
disorder manifesting as tremor, imbalance, weakness in
understanding of underlying mechanisms of progressive
legs, and cognitive decline as they get older, which has
neurological changes and brain damage.
been named Fragile X-Associated Tremor-Ataxia syn-
drome (FXTAS).
Seeking participants and tests
The earlier research of this condition showed that the
We invite all males carrying the premutation aged 50
FMR1 premutation generates excessive an amount of years and over to participate in our study, regardless of
genetic message presenting as the elevation of their health status, as well as female carriers, particularly
‘messenger RNA’, which transmits the genetic those who are affected by FXTAS.
information from DNA to the protein- making system.
So it appears that the FMR1 gene in premutation carriers In addition to neurological and neuropsychological
is ‘overactive’ and this leads to the neurological disorder. assessments performed by the respective specialists
(Prof Storey, Dr Loesch, and clinical psychologist
Further to these discoveries, in our more recent NIH- personnel) we conduct MRI (magnetic resonance
supported study we have been investigating this problem imaging) testing (unless there are contraindications, or a
in more depth by trying to answer the question why a participant does not feel comfortable with it).
substantial proportion (nearly 50%) of male premutation
carriers do develop FXTAS, some others (about 20%) We also collect blood samples to measure the level of
develop only isolated neurological problems, and the messenger RNA, and to look for some other changes/
remaining 30% are totally unaffected. In order to answer biomarkers, which may allow us to understand why a
this question we need to understand the pathological person has developed, or has a high risk of developing the
processes leading from the elevation of the messenger full blown FXTAS. All the testing is free of charge, and
RNA (mRNA) to brain cell loss and neurological disorder. specialist’s advice or genetic counselling will be provided
In order to unravel these processes our study has if required. We intend to repeat all the testing after 2 and 4
identified a series of molecular biomarkers from the most years after initial investigation, but we can also use
accessible human tissue, blood, which reflect the way Information from a single session in case the follow-up
individual cells respond to a stress caused by the elevated testing is not possible.
expression of the expanded mRNA.
Page 11The location. Ideally, we would like to conduct the testing Contact information. The detailed information about many
in our clinical room in Melbourne, at the La Trobe aspects of this study will be given in our consent form
University, Bundoora Campus. We will reimburse which we will provide before the testing begins.
participants’ travel expenses and overnight hotel stay in If you are interested in participating in the study or would
Melbourne if required, since we do not wish to conduct all like more information, please contact:
the tests in one day to avoid fatigue. Dr Danuta Loesch (03) 94584014(ah) or 04 07687145.
Or by email d.loesch@latrobe.edu.au
However, if a participant is not willing or is not strong Ms Penny Hartman (RA, clinical neuropsychologist) at
enough to travel, our team will see him/her in their home (03) 9479 2329 or 04 03241326.
environment, where blood samples will also be collected. Or by email: p.hartmann@latrobe.edu.au
New Short Videos on Diagnosis of Fragile X
In July, ThinkGP, part of Reed Medical, created a Fragile X section on their GP education website and published three
short videos which were launched to their large subscriber base to coincide with Fragile X Awareness Day on 22 nd July.
These resources play an important role in the supporting education of general practitioners and other medical
professionals about Fragile X syndrome.
These videos can also be viewed on the Fragile X Association youtube channel
A parent’s perspective on early diagnosis
with Mike Tozer http://bit.ly/2u9E8dC
A parent’s perspective on the ongoing role of a GP in managing the health of an adult with Fragile X
with Dr Cynthia Roberts http://bit.ly/2uzyez9
A GP’s perspective on when to consider Fragile X as a diagnosis with Dr Jonathan Cohen
http://bit.ly/2v9vKL0
These videos have been viewed on average 2,000 times each on the ThinkGP website, and around 1,000 times each on
our FXAA facebook pages and youtube!
The Link between Fragile X and Primary Ovarian Insufficiency
25% of women who are carriers of Fragile X will undergo
FX-associated Primary Ovarian Insufficiency (FXPOI).
Earlier this year, GP health provider HealthEd produced a short
video for us on the link between Fragile X and Primary Ovarian
Insufficiency.
This 2-minute video is intended to help educate and inform GPs
about the importance of testing young women with early onset
menopause with undiagnosed cause for Fragile X carrier status.
The questions scripted for the video were produced by Katrina
Weir of FXAA.
Many thanks to Prof Rod Baber who kindly gave his time to
present this short video, now on youtube.
Page 12Getting Friends Together and Fundraising!
Fragile X Awareness High Tea, Launceston
The High Tea in Launceston was an outstanding success! Shane Lyons, Jessica Lyons, Ben Ryan and
Jo Ryan put together a fabulous event. More than 100 people on the day, raising more than $3,000!
Raffles. Door prizes. Speakers. Sharing understanding of Fragile X.
Thanks to everyone who came along, wore orange, shared their photos, and had fun! And sincere
thanks to The Grand Chancellor and the many Launceston businesses who supported the High Tea.
Photo credit: Kitty Stokes
Page 13Diagnosis of Fragile X:
Parental concern an
important indicator for GPs
Prepared by Fragile X Association of Australia for publication on the ThinkGP
education portal of Reed Medical Education in 2017.
This article on the importance of responding to parental con-
cern was prepared by Fragile X Association and based on
“If GPs are not trained to conduct developmental screen-
interviews with a number of specialist doctors.
ing or are not sure how to manage the situation, do not
While it was written specifically for GPs it is equally as
disregard the parents’ concerns but take action and refer
relevant to all other health professionals who have early and
on. There is nothing lost by providing parents with ac-
ongoing contact with mothers and their young children.
cess to assessment,” says Professor Einfeld.
When presenting on the topic “What GPs need to know Changes in NSW
about intellectual disability”, Professor Stewart Einfeld, However, there are changes afoot to help accelerate the
Centre for Disability Research and Policy, University of early identification of development delay, specifically in
Sydney, said that parental concern is enough to indicate NSW where the current system for developmental
further testing. surveillance is run by child and family nurses using the
PEDS, part of the infamous ‘blue book’. As nowadays only
And according to A/Professor Natalie Silove, consultant 30% of parents visit the child and family nurse after the
paediatrician and Head of Child Development Unit, The child turns one, opportunities for early identification are
Children’s Hospital at Westmead, research shows that less frequent.
parents have an 80% chance of being correct.
In other words, if parents express concern about their Professor Valsamma Eapen, chair, Infant Child and Ado-
child’s development then in 80% of cases, assessment lescent Psychiatry at UNSW, is conducting a research
will confirm their instincts are right. project with NSW Health and Liverpool Hospital in South
West Sydney looking at using the opportunistic contact
Professor Einfeld believes that a healthcare professional’s with a health professional during vaccination visits to fa-
threshold for responding to parental concern should be cilitate early identification of developmental problems.
low. When faced with parents who are concerned about
their child’s development, current best practice for GPs is Professor Eapen’s trial using the Watch Me Grow webapp
to take notice and listen, and if suitably trained, conduct a is targeting parents who are visiting the GP as part of the
baseline developmental screening tool such as the routine 12 or 18 month vaccination schedule. While in the
Parents’ Evaluation of Developmental Status (PEDS) or waiting room, parents are given an ipad to access the
the Ages and Stages Questionnaire. Alternatively, webapp to answer 17 questions – 7 relating to general
a GP should refer to a paediatrician or community health development and 10 specific to autism. Once completed,
centre. and before the appointment begins, the results are
analysed and any parent-reported concerns along with
“It is important to take action when a parent expresses recommendations such as refer for further assessment,
concern, and the use of a screening tool helps by doing early intervention etc are communicated to the GP.
something tangible to show the parent their child’s devel-
opmental progress relative to other children of the same The parent will also receive an email with feedback on the
age,” says Professor Silove. Follow-up is also essential, results along with anticipatory guidance linked to the US-
even if the child is not showing signs of developmental based Center for Disease Control and Prevention (CDC)
delay as this will provide further reassurance to the par- Learn the signs. Act Early program which provides a
ents. summary of milestones for children aged from 2 months
– 5 years, and provides the tools for parents to track their
It is very important that health professionals do not pro- child’s development and act early on any concerns.
vide false reassurance to parents who express concern This is in keeping with the recent changes made by NSW
about their child’s development. This can make parents Health regarding developmental surveillance in the ‘blue
very angry and feel let down, particularly when they are book’ where the PEDS has been replaced by Learn the
aware that opportunities for early intervention may have Signs. Act Early resources. Professor Eapen is hoping to
been missed. receive funding for a larger, multi-site trial to continue vali-
dating the program.
Page 14Diagnosis: A Personal Story
Helen Tozer is the parent of Josiah, a six year old boy with
Fragile X syndrome. With a background in early childhood
education, she knew that Josiah was not meeting his
developmental milestones from a very young age.
She first raised her concerns with a GP in Hong Kong
when Josiah was one month old but her concerns were
brushed aside and she was told that he was fine.
After a move to the USA and escalating anxiety about
Josiah’s development, Helen become increasingly
proactive in finding a health professional who would take
her concerns seriously and act on them accordingly.
“At first, I felt like I needed to justify my concerns and
convince the doctor that I was right about my son,” “Not only is this untrue but being continually told that
Helen said. boys are slower to develop is disempowering and under-
mines a parent’s level of concern,” said Helen.
“The doctor eventually agreed with me which started a
diagnostic treadmill that, after endless inconclusive When asked if she had advice for other parents who are
neurological and metabolic testing, finally resulted in concerned about their child’s development, Helen says to
genetic testing and the diagnosis of Fragile X syndrome trust your instincts and don’t give up.
when Josiah was 18 months old.”
She acknowledges that not everyone is an “instinctive
Helen says that she and her husband were told multiple advocate” but urges parents to keep searching for a
times by both health professionals and other parents that health professional who acknowledges that your
boys tend to be more delayed than girls. concerns are valid and is prepared to work with you to
confirm or deny them.
Prepared by Fragile X Association of Australia for publication on the Photo of the Tozer family for Fragile X Association of Australia by
ThinkGP education portal of Reed Medical Education in 2017. Daniel Linnet of LinnetFoto
Fragile X Community Day Hobart Supported by:
Fragile X Association of Australia is extremely grateful to the Calvary Community Council in Tasmania for their
support of the Fragile X Community Day which will be held in Hobart on Friday 3 November. We were very fortunate
to be a recipient of a Calvary Community Council grant to help fund this important Fragile X community event.
It’s a privilege for us to have the support of the Tasmanian community. This event will bring together many families
in Tasmania affected by Fragile X. The special guest speakers, Dr Marcia Braden from the US,
with Dr Jonathan Cohen from the Fragile X Alliance Clinic in
Melbourne, are acknowledged experts in their fields.
Together they will lead the one-day seminar and offer
individual FX assessment clinics on Saturday 4th November.
VENUE Best Western Hobart, 156 Bathurst Street, Hobart
TICKETS - Book online at Trybooking: http://bit.ly/2xZ5e5W
Members of FXAA & their family members $25.00
Fragile X family (not FXAA member) $35.00
Health, education or disability support professional $75.00
(Some sponsored free tickets are also available)
CLINIC BOOKINGS: contact Wendy on 1300 394 636 Sr Juliana from Calvary presenting the FXAA
grant cheque to Claire Colgrave in Launceston
FOR MORE INFORMATION see www.fragilex.org.au
Page 15There is currently much work going on to more clearly
elucidate the function of the gene including translational
research. We heard presentations from basic science
through to the use of existing medications used for other
conditions to restore normal function. Data was
presented on ‘knock-in’ drosophila fly and mouse models
which are used to study both downstream effects and
‘rescue’ medications with much promise for the future.
Keynote speakers included Prof Paul Hagerman from the
MIND Institute in California who presented an overview on
FXTAS, and Prof Yonath, the Middle East’s only female
Nobel Laureate in Chemistry, who presented a fascinating
It was my great pleasure to attend the 3rd International review of the molecular basis of Genetic
Conference on the Fragile X Premutation, at the Mt Zion Code Translation.
Hotel, Jerusalem this September. The meeting was
hosted by Dr Shai Elizur and Dr Yoram Cohen from the Other presentations included the use of a
Fragile X medical group in the highly regarded Sheba new smartphone app developed in Israel
Medical Centre at Tel Hashomer. with both research and clinical application
for neurological disorders,
This multidisciplinary group comprises paediatricians, neurosurgical treatments and screening.
neurologists, obstetricians, geneticists and allied health
practitioners who utilise a shared clinical database and Israel is decades ahead of other countries in offering
run the largest Fragile X clinic in the middle east caring for routine genetic carrier screening for relatively common
over 1000 families. Our clinic in Melbourne only has 300 conditions such as FXS, Cystic Fibrosis and Spinal
FXS families so we had a lot talk about! As well as locals, Muscular Atrophy. Screening is provided free by the
this meeting attracts the leading clinical and laboratory government and taken up by 80% of the female
researchers from the USA, Europe and around the world population prior to starting a family. Preimplantation
who present, discuss, and of course argue (politely) about Genetic Diagnosis (PGD) is a form of IVF also freely
current approaches to the science and clinical application available to carriers of single gene disorders, although
associated with the gene. spontaneous pregnancy with chorionovillous sampling
(CVS) has better outcomes.
The Fragile X full mutation is the most common known
inherited cause of developmental disability and single Genetic carrier screening is becoming routine standard of
gene cause of autism spectrum disorders. It causes a care in Australia, with Melbourne’s Victorian Clinical
range of learning problems, emotional and behaviour Genetic Services offering this technology for the last 2
problems including anxiety and ADHD. years in keeping with current Australian and international
recommendations. Screening for FXS is increasingly
However, the premutation can result in a separate symp- offered together with screening for other genetic
tomatic clinical phenotype involving specific endocrine conditions, and increasingly as ‘expanded carrier
and neurological dysfunction known as ‘Fragile X- screening’ where 100 or more genetic conditions are
associated Disorders’ (FXD). screened for with a simple blood or saliva test. Our clinic
is now offering these tests to the general community in
These include Fragile X Tremor Ataxia syndrome (FXTAS), response to increasing demand. Israel has 20 years of
a progressive neurological degenerative disorder which experience in this area and their clinicians and
may be confused with Parkinson’s Disease, and Fragile X researchers have published widely. It was extremely
Premature Ovarian Insufficiency which occurs in 20% of inspiring to see the leading role this group has taken in
carriers (compared with 1% in the general population). providing academic leadership to international clinicians
and researchers in this area.
There are also a range of premutation associated medical Dr Jonathan Cohen
and neuropsychological disorders including anxiety and Medical Director
executive function defects which may affect a subgroup Fragile X Alliance Clinic, Genetic Clinics Australia
of premutation carriers. FXD has been estimated to affect 03 9528 1910
approximately 10 million people worldwide with jcohen@geneticclinic.com.au
approximately 1 in 250 females and 1 in 430 males www.geneticclinic.com.au, www.fragilex.com,au
carrying the premutation.
Page 16Launch of International FXTAS Consortium
Robby Miller, from the International Fragile X Alliance, also reports on the
FMR1 Premutation conference in Jerusalem:
“ The meeting also had sections devoted to FXPOI and FXTAS. Though many of the
presentations were highly technical in nature, there was much discussion about how
to better identify those at risk for a premutation disorder, how and why some premutation carriers develop FXTAS (or
“convert” in the jargon of the researchers), how to better – and earlier – diagnose those with a premutation disorder
and how to, for those who do develop a premutation disorder, minimize the symptoms. Of course, there was also
frequent mention of the long-term goal to prevent the development of premutation disorders.
I had the privilege of, along with Dr. Randi Hagerman, leading a session
about the new International FXTAS Consortium (IFC) that Randi and I
co-founded and that is a joint effort by the National Fragile X
Foundation, the UC Davis MIND Institute and the Fragile X Association
of Australia.
This session resulted in a clear consensus that the initial efforts should
focus on the establishment of FXTAS clinics throughout the world and
that collaborative research would be the logical outgrowth of that ef-
fort.”
Robby with Galit Halfon (FX Association of Israel)
This comprehensive 5-page article was written by Extract:
Dr Rachael Birch, Dr Jonathan Cohen, Prof Julian Trollor.
Objective/s
The article was published in July in the medical journal The aim of this article is to describe fragile X-
Australian Family Physician, which is the journal of the associated disorders and identify specific
Royal Australian College of General Practitioners. considerations for general practitioners (GPs) during
identification and management of these disorders.
Fragile X Association of Australia highly recommends
this article for GPs and other health professionals, and Discussion
encourages all our members to take a copy to their GP. GPs have a critical role in the identification of fragile X-
associated disorders, as well as coordination of com-
The article is available in full on the AFP website: plex care needs. Prompt recognition and
appropriate management of these disorders and poten-
https://www.racgp.org.au/afp/2017/july/fragile-x- tial medical and psychiatric comorbidities will have im-
Brisbane 2016
associated-disorders-don%E2%80%99t-miss-them/ portant implications not only for the affected patient,
but also other family members who may be at risk.
Australian Family Physician, Vol 46, No 7, July 2017. p487-491
Page 17The Generational Impact of Fragile X: One Family’s Story
Rosemarie McRae shared her family’s story of Fragile X
with mamamia.com, to help raise awareness and
understanding of Fragile X in advance of FX Awareness
Day, July 22nd. This is her story:
Brisbane-based Rosemarie McRae had an incredible
career as a helicopter pilot for 24 years. She fought
discrimination against women joining the profession, she Shelley and Nylete McRae
filmed for movies, conducted hair-raising search and
rescue missions, received a Heroism Award for Saving
Lives at Sea and an appreciation award from the It was only when one of her grandchildren was diagnosed
Civil Aviation Authority for rescuing four fishermen with Fragile X syndrome, characterised by intellectual
stranded in a cyclone. disability, speech delay, autism and problems managing
sensory information, that genetic testing of the entire
Rosemarie was president of the Helicopter Association of family identified Rosemarie and in turn both daughters as
Australia, mustered cattle in the Northern Territory and carriers of this serious yet frequently under-diagnosed
owned and operated her own helicopter charter business condition.
taking visitors to remote locations that are inaccessible
by land. Her biography, Whirly Girl 530, was published in The McRae family story is typical of the pattern of
2004. inheritance with Fragile X syndrome. It affects multiple
generations within a family and for every new diagnosis
But around 1992, at around age 40, all that changed. of Fragile X syndrome, an average of five additional family
She started to become fearful of flying over water despite members are identified as being a carrier of the condition.
years of experience and ‘not being scared of anything’.
Nowadays, Rosemarie, aged 64, lives in full time care in
And in 2012, at the age of 60, Rosemarie was diagnosed Brisbane, and has tremors, loss of muscle mass, short
with Fragile X –associated Tremor Ataxia syndrome, a term memory loss, confusion and problems with
condition that can affect men and women who are organisation and decision making. Her daughter Shelley,
carriers of the faulty Fragile X gene. who completed a PhD in biochemistry, is now a single
mum raising three children, a son with autism, daughter
With the onset of FXTAS, as it is more conveniently with Fragile X syndrome and anxiety, and younger son
called, Rosemarie developed the characteristic tremors with both Fragile X syndrome and autism. Shelley has
and shakes. Her high level functioning had declined to struggled with anxiety and depression all her life.
the point where she was having trouble doing simple Rosemarie’s other daughter Nyleta, an IT consultant who
things for herself, and she had increasing anxiety which is lived and worked in Canada and the USA, has three chil-
commonly associated with the condition. Rosemarie had dren, two of whom are affected by Fragile X syndrome.
early menopause around age 40, a further risk associated Nyleta had early menopause (like her mother Rosemarie)
with being a Fragile X carrier, and by the time she was 62, and also suffers from anxiety and depression, which are
the progression of FXTAS meant that she couldn’t look very common for women who are Fragile X carriers.
after herself any more.
Nyleta is on the Board of Fragile X Association of
The problem was that Rosemarie wasn’t aware that she Australia. Both Shelley and Nyleta are very active in
was a carrier of the faulty Fragile X gene, nor was she raising awareness of Fragile X, and fundraising for the
aware that she had passed the gene onto her two Fragile X Association.
daughters, Nyleta and Shelley.
Many thanks to the McRae family for sharing their story,
on Channel 7 news for July 2016, and again in 2017.
Page 18Genetic Counselling and Fragile X
Hi, my name is... I was able to present some of the preliminary research
... Jacintha & I am a Masters of Genetic Counselling findings at the Human Genetics Society of Australasia
student who has spent some time volunteering at the Annual Scientific Meeting in Brisbane in August this year,
Fragile X Association of Australia in Sydney. which was attended by genetic counsellors, clinical
I have an IVF background and for the last 16 years have geneticists and diagnostic scientists.
worked in an IVF laboratory to help mainly infertile cou-
ples with their dream of becoming a family. Amongst the The research won an award for its originality and its
couples I assisted over the years, some have had a known contribution to genetic counselling practice.
genetic condition for which they wanted to screen their
embryos such that they could avoid passing this condition
on to future generations. It was this group of patients
which reignited my passion for genetics. And I recognised
the importance of talking to couples about sensitive top-
ics in a way which made it easier to understand.
I applied for the Masters in Genetic Counselling course at
the University of Sydney and was delighted to be one of
12 other students to be offered a place in the program in
2016. Amongst the other students in my year, there are
students with a genetics and molecular biology back-
ground and also students with a psychology & counselling
history.
Our lectures are from genetic experts in the field – either
specific genetic disorders or hereditary cancer
syndromes. In addition, there are counselling modules
which teach us the necessary skills to communicate
complex genetics in a way people can understand, to
listen attentively, to guide informed decision making and
also enable us to be a patient advocate by understanding
the needs of people affected by a genetic condition.
A genetic counsellor can essentially provide an ear, a
shoulder, an eye or a voice – whatever is required!
During the two years of the course I have undertaken
placements with qualified genetic counsellors at various
genetic services across Australia and in the Netherlands.
My final placement will be in Wollongong at the hereditary
cancer clinic. I would like to thank the Fragile X Association of Australia
for allowing me to spend some time with them and for
Fragile X Research Project promoting the study amongst you, its members.
Every student conducts a research project during the
course of their two year Masters degree. For my project I The experience has been very enriching, rewarding,
teamed with the GOLD Service in NSW and the Fragile X humbling and inspiring – I have learnt so much about a
Association of Australia to explore the experiences and condition I knew relatively little about. I hope the research
information and support needs of non-carrier fathers of findings will help to inform and improve current genetic
children with Fragile X Syndrome. counselling practice and policy and ultimately mean
This is a two-part project – part one were telephone inter- families of children with Fragile X syndrome can be better
views and part two will be an online questionnaire, which supported. I also hope to have made a positive
will become available early next year. contribution to the wonderful work the Association does
for its members.
As my Masters is nearing completion I am busily writing
up my research findings and will definitely provide you Jacintha Luermans
with some feedback – probably in the next FX newsletter!
Page 19Raising the Profile of Fragile X
By Beverley Kadish
I attended the 27th National Occupational Therapy Austral-
ia Conference and Exhibition in Perth in July. Apart from
the knowledgeable, dynamic, inspiring and motivating key
note speakers each morning, it was an incredible feeling
to be surrounded by almost 1000 colleagues sharing my
enthusiasm and passion for this unique and ever
changing profession. It gave me a new appreciation of
how irreplaceable and special OT’s are in this fast paced
world of technology and how we are forever embracing
ideals such as Partnership, Inclusion and Innovation
which was the theme of the conference.
I was fortunate to be given the opportunity to give a short
presentation entitled Managing Hyperarousal as the Key
to Managing Behaviours in Fragile X Syndrome.
The presentation focussed on identifying the triggers of
the hyperarousal and responding appropriately using
strategies such as a withdrawal area, The 5 Finger
Approach, deep breathing, singing and using a calm
gentle voice to restore a comfortable arousal level. The
use of proactive strategies was highlighted and included
managing the environment, using visual schedules,
Ready/ Not Ready cueing, social stories and role playing.
The most important message was that hyperarousal
It was an invaluable opportunity to reaffirm what is best
underlies many of the phenotypical behaviours in Fragile
practice in occupational therapy, stay abreast of
X and as such needs to be our focus.
developing trends and new practices and become aware
of the expanding scope of this dynamic profession.
The presentation was warmly received and it’s great when
people are attentive, take notes and photos of your slides.
Thank you to the Fragile X Association of Australia for all
There was some interest following my presentation about
their support and for contributing to the costs associated
how specific and specialised Fragile X Syndrome is.
with presenting at this conference.
There were many other complementary presentations by
by professionals whose names are now just faces.
I attended mainly presentation streams on children and
families including autism, school and play.
Beverley Kadish is a paediatric occupational therapist, sensory processing disorders, helping children and their
with over 20 years experience, who has worked across a families to cope with daily life.
variety of settings and currently works in private practice
in Melbourne. Bev presents locally and has attended and presented at 2
international FX conferences.
Bev is trained in Neurodevelopmental
Therapy and has extensive experience working with Bev is a member of the Fragile X Alliance in Melbourne,
developmentally delayed children. She is also trained in working with Dr Jonathan Cohen and consulting as part
Sensory Integration Therapy and has a special interest in of the clinic’s multidisciplinary team.
Page 203DN Launches New Intellectual
Disability resources for professionals
and Carers at Research to Action Day
3DN has launched new must-have practical tools and The resources that were launched included:
resources designed to enhance the skills of professionals
and carers who support people with an intellectual The Intellectual Disability Mental Health Core
disability. Competency Framework: A Practical Toolkit for
Mental Health Professionals
The new resources were officially launched in Sydney on New e-Learning modules for disability professionals,
25 July 2017 by the Hon. Tanya Davies, NSW Minister for carers and mental health professionals
Mental Health at a Research to Action Day which was Podcasts on responsible prescribing to people with
kindly sponsored by the NSW departments Health, an intellectual disability for health and mental health
Ageing, Disability & Home Care, and Family and professionals
Community Services. A new Positive Cardiometabolic Health for People
with Intellectual Disability e-Learning module aimed
The day included presentations by carers, advocates, and at health professionals
health and disability professionals (some of whom were Find more information about intellectual disability
involved in the development of the resources), and resources at 3DN’s website: https://3dn.unsw.edu.au/
workshop activities to help attendees become familiar
with the resources and how they could be implemented.
The day was well attended by health, mental health and
disability professionals, carers and advocates, along with
academics and those involved in policy development.
3DN’s Dr Rachael Birch, with FXAA’s Amanda
Rummery-Hoy, and 3DN’s Prof Julian Trollor
at the launch in Sydney
Study: Experiences of Fathers
of Children Diagnosed with Fragile X
The NSW Genetics of Learning Disability (GOLD) Service, in collaboration with the University of Sydney Master of
Genetic Counselling Program, is inviting Australian-based fathers of children with Fragile X syndrome to talk about
their experiences surrounding their child’s diagnosis of FXS.
The information provided will be used to inform improvements in how genetic services provide support to families
of children with FXS.
1-hour interview: the first part of the study involved a 1-hour interview with M Gen Counselling student, Jacintha
Luermans. Jacintha is working closely with her supervisor from the GOLD Service. The second part of the study
will involved an online questionnaire which will be launched in 2018.
Joining the study: If you’d like to be involved with this study please contact Rosie O’Shea:
rosie.oshea@sydney.edu.au or 02 99264684.
Page 21Employable Me
New documentary series
in 2018
Challenging perceptions and
creating opportunities
Marty Campbell being filmed for the series at his home in Sydney
Production company Northern Pictures has produced a documentary series for ABC Television featuring people with
neuro-diverse conditions such as autism, Asperger’s, Tourette’s syndrome and Fragile X syndrome as they look for
employment.
Based on the award-winning BBC series, this Australian documentary aims to show that having a condition that
causes lifelong difficulties can be viewed as a strength, not a disability, in the workplace.
The project has the backing of Screen Australia and the NSW Government as well as the ABC.
According to the ABC website, “With the help of experts in the field, the series will draw on science to highlight the
skills of each jobseeker and match them to roles that can harness their strengths.”
NSW Minister for Disability Services, Ray Williams MP was quoted as saying “Research shows that across all sectors,
a critical barrier for jobseekers with a disability is the attitude of prospective employers…. I hope that the series will
contribute to building positive community attitudes on employment for people with a disability.”
ABC Managing Director Michelle Guthrie said “The ABC is committed to telling significant stories of diversity and
inclusion that can make a positive change to the lives of Australians—especially those who are disadvantaged.”
Marty Campbell, who has Fragile X syndrome, has taken part in the documentary series, and said that he thoroughly
enjoyed it. Marty will be a key character in the series!
Thanks to FXAA’s Katrina Weir, for introducing the production company to Marty, and many thanks to Robyn Iredale
and Marty’s entire family for their involvement and support during the film production.
The series will be on air on the ABC in 2018. We’ll post the dates on our website and facebook as soon as we can.
Page 22Fundraising and your tax-deductible donations help us to support families impacted by Fragile X.
Help Line 5 days per week Information Days and Workshops
Family support Information on Fragile X
Counselling Website and social media
Donation options:
monthly donations
one-off donations
For other Direct Donation options
workplace giving programs
call Wendy on 1300 394 636
www.givenow.com.au/
If you’re keen to help support us by fundraising, please get in touch!
If we can help with any support or
Welcome Laura! information
Laura Patel is an accountant and has please
joined us to work 2 days a week in a get in touch
bookkeeping and administration role.
1300 394 636
laura.patel@fragilex.org.au or
support@fragilex.org.au
Amanda Rummery-Hoy
Family Support Counsellor
amanda@fragilex.org.au
Wendy Bruce
Executive Officer
wendy@fragilex.org.au
Page 23f
FXAA BOARD MEMBERS
FXXAA BOARD 2016-2017
MEMBERS
There will be two vacancies on the Board in October, due to the planned retirement of two of the directors.
From top left to right: Graham Hook (President , from QLD), Lisa Ryan (Treasurer from VIC),
If you’re interested in joining our
Nyleta
Board McRae (Secretary,
of volunteer from
directors, we’d QLD),
love Nadene
to hear from Lee
you.(Director, from NSW), Mike Tozer (Director, from NSW),
CathyRobyn
Contact Love (Director,
Iredale or from
Wendy VIC), Katherine
Bruce: 1300 394Brown
636 or(Director, from SA).
wendy@fragilex.org.au
DIARY DATES
October 16
Language & communications workshop
with Marcia Williamsz —Sydney
November
Fragile X Information day Brisbane, 1 November
Fragile X Information day Hobart, 3 November
Annual General Meeting Sydney, 26 November
Registered office of Fragile X Association of Australia Inc
Suite 204
20 Dale Street
BROOKVALE NSW 2100
02 9977 0074 1300 394 636
ABN: 18 655 264 477
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